Table 4:

Pending Requirements for Collaborative Efforts toward FSASD Therapy

Requirements	Efforts
Disease Awareness	Publications, presentations at scientific meetings Reach Pediatric Neurology community Patient advocacy group promoting outreach1 Universal disease and mutation nomenclature2 Recognition as lysosomal transport storage disorder Epidemiology2
Diagnosis	Highlight specific disease symptoms, such as brain hypomyelination Promote urinary free sialic acid screening Inclusion of SLC17A5 in lysosomal storage disease gene panels Explore newborn screening
Prospective Natural History Study3	Recognize specific disease symptoms Symptomatic treatment Prognosis Genetic counseling Biomarker discovery Clinical trial design and endpoints
Disease Models	Characterize, create and share cell models Slc17a5 knock-out mice Slc17a5 knock-in mice Explore other FSASD models (organisms, cell systems, organoids)
Therapeutic Research	Expand basic research: pathomechanism Explore SLC17A5 chaperones/ligands for stability, transport activity4 Reduction of intra-lysosomal stored material Specifically target p.Arg39Cys SLC17A5 variant Drug screening panels; repurposing approaches Cell-based therapies TFEB-related therapies Gene therapy or gene editing Identify disease modifiers
Clinical Trials	Preclinical data package Pharmaceutical industry collaborator Identify experts in countries with founder mutations Epidemiology Patient registry Recruitment

¹Salla Treatment and Research (STAR) Foundation, Bronx, New York, USA

²This review and a Mutation Update publication (in preparation)

³In addition to recent retrospective FSASD natural history reports [10, 11]

⁴As performed in a recent study [105]